Cardiac Genetic Testing Results Interpretation Tool

Key Points When Interpreting Genetic Test Results

The interpretation of a genetic result depends on the context of the individual and family.
If a patient meets clinical criteria for a genetic syndrome based on his or her medical and family history, the patient may be managed according to guidelines for the syndrome, even in the absence of confirmatory genetic testing.
When testing an unaffected individual, interpret a negative result with caution. A negative result is only a true-negative when a pathogenic variant has already been identified in the family.
Genetic test results are not always straightforward. In these cases, consider communicating with the lab or a genetic professional. To find a genetic professional, use the Accessing Genetic Services tool.

Genetic testing may reveal a pathogenic variant that is unrelated to the patient’s initial presentation (also called a secondary finding). Clinicians should review the report in detail to identify the cardiac risks associated with the identified gene and determine whether the finding explains the clinical features that prompted the testing.
Be cautious with counseling and management changes when results are uninformative or a variant of uncertain significance (VUS) is identified.

Possible Outcomes of Cardiovascular Genetic Testing (Autosomal Dominant Conditions)

Clinical Presentation of Person Tested	Genetic Testing Result	Interpretation	Management	Recommendations for Family Members
Affected	Positive	True positive. Disease-causing variant identified. Test confirms clinical diagnosis or clinical suspicion.	Follow gene-specific guidelines if they exist. Otherwise, follow guidelines for the clinical condition.	Targeted genetic testing of first-degree family members is recommended.
Affected	Negative	The result does not rule out the diagnosis or a genetic cause for the condition.	Follow guidelines for the clinical condition.	Genetic testing of unaffected family members not recommended. Cardiac screening may be recommended.
Affected	VUS	The result, at this time, is uninformative	Do not use in clinical decision-making.	Testing of family members for VUS is not recommended.
Unaffected	Positive	Patient is at risk for developing cardiac disease.	Follow gene-specific guidelines if they exist. Otherwise, follow guidelines for the clinical condition.	Targeted genetic testing of first-degree family members is recommended.
Unaffected	Negative for known, pathogenic familial variant	True negative. Patient is likely not at increased risk.	Increased screening based on the familial variant is not recommended.	Patient’s children are not at increased risk. Other family members at-risk should be offered genetic testing.
Unaffected	Negative (without a known familial variant)	Genetic cause cannot be ruled out.	Follow screening guidelines based on family history.	Other family members at-risk should be offered genetic testing.
Unaffected	VUS	The result, at this time, is uninformative.	Follow screening guidelines based on family history	Testing of family members for VUS is not recommended.

Learn more

For more information on cardiac genetic testing, see:

Identifying Red Flags and Patterns for Hereditary Cardiovascular Disease. Practice identifying genetic risk factors for cardiac disease.
Interpreting Positive Results from Cardiac Genetic Testing. Practice interpreting positive genetic test results to personalize management of hereditary cardiovascular disease.

Updated August 2023